Canonical Allele Identifier: CA965914837

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1890107905
• gnomAD v3: 14-91279401-A-ATG
• gnomAD v4: 14-91279401-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279402_91279403dup , CM000676.2:g.91279402_91279403dup	GRCh38
NC_000014.8:g.91745746_91745747dup , CM000676.1:g.91745746_91745747dup	GRCh37
NC_000014.7:g.90815499_90815500dup	NCBI36
NG_033118.1:g.143442_143443dup
NG_033118.2:g.143442_143443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-97_4700-96dup MANE Select	ENSP00000374507.6:n.4700-97_4700-96dup
ENST00000331194.8:c.272-97_272-96dup	ENSP00000330332.8:n.272-97_272-96dup
ENST00000334448.5:n.512-97_512-96dup
ENST00000389857.10:c.4700-97_4700-96dup	ENSP00000374507.6:n.4700-97_4700-96dup
ENST00000556726.5:c.928-97_928-96dup
ENST00000557455.1:n.575_576dup
NM_001080414.3:c.4700-97_4700-96dup	NP_001073883.2:n.4700-97_4700-96dup
XM_011536796.1:c.4592-97_4592-96dup	XP_011535098.1:n.4592-97_4592-96dup
XR_429316.2:n.4975-97_4975-96dup
XR_943459.1:n.5486_5487dup
XM_011536796.2:c.4592-97_4592-96dup	XP_011535098.1:n.4592-97_4592-96dup
XM_017021335.2:c.*477_*478dup	XP_016876824.1:n.*477_*478dup
XM_017021336.1:c.1781-97_1781-96dup	XP_016876825.1:n.1781-97_1781-96dup
XR_429316.4:n.4973-97_4973-96dup
NM_001080414.4:c.4700-97_4700-96dup MANE Select	NP_001073883.2:n.4700-97_4700-96dup